RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:
autosomal recessive limb-girdle muscular dystrophy type 2Y
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24. (DO)
Synonyms:
exact_synonym:
LGMD2Y; MRRSDC; autosomal recessive muscular dystrophy due to LAP1B deficiency; autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency; autosomal recessive myopathy with rigid spine and distal joint contractures; limb-girdle muscular dystrophy type 2Y; muscular dystrophy with progressive weakness, distal contractures and rigid spine